Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.
Wang C et al.
Aging, 2021
33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE
Familial campomelic dysplasia due to maternal germinal mosaicism.
Higeta D et al.
Congenital Anomalies, 2018
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
Mattos EP et al.
Genetics and Molecular Biology, 2015
25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
Wada Y et al.
American Journal of Medical Genetics. Part A, 2009
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J et al.
Human Molecular Genetics, 1997
Mutations in SRY and SOX9: testis-determining genes.
Cameron FJ et al.
Human Mutation, 1997
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